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International Journal of Molecular Sciences|August 12, 2023
Functional Evidence of CCDC186 as a New Disease-Associated Gene with Endocrine and Central Nervous System AlterationsLuisa Arrabal, Gerard Muñoz-Pujol, Inmaculada Medina Martínez, et al.
Clinical Biochemistry|January 17, 2009
Screening for congenital disorders of glycosylation (CDG): transferrin HPLC versus isoelectric focusing (IEF)Ester Quintana, Aleix Navarro-Sastre, José María Hernández-Pérez, et al.
Journal of Clinical Medicine|March 25, 2022
Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's DiseaseEulàlia Segur-Bailach, Olatz Ugarteburu, Frederic Tort, et al.
Stem Cell Research|June 26, 2024
Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDHImke M E Schuurmans, Clara D M van Karnebeek, Anita D M Hoogendoorn, et al.
Molecular Genetics and Metabolism|November 21, 2007
A new fatal case of pyridox(am)ine 5'-phosphate oxidase (PNPO) deficiencyAngeles Ruiz, Judit García-Villoria, Aida Ormazabal, et al.
Journal of Inherited Metabolic Disease|May 10, 2014
Unravelling the complex MRI pattern in glutaric aciduria type I using statistical models-a cohort study in 180 patientsSven F Garbade, Cheryl R Greenberg, Mübeccel Demirkol, et al.
Pediatric Neurology|May 13, 2009
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type IAlfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, et al.
Plos One|June 1, 2016
Targeted Next Generation Sequencing in Patients with Inborn Errors of MetabolismDèlia Yubero, Núria Brandi, Aida Ormazabal, et al.
Journal of Neuroscience Methods|April 20, 2006
Methods for the diagnosis of creatine deficiency syndromes: a comparative studyAngela Arias, Aida Ormazabal, Juan Moreno, et al.
Journal of Lipid Research|August 5, 2015
Cholestane-3β,5α,6β-triol: high levels in Niemann-Pick type C, cerebrotendinous xanthomatosis, and lysosomal acid lipase deficiencySonia Pajares, Angela Arias, Judit García-Villoria, et al.
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